Epilepsy-microcephaly-skeletal dysplasia syndrome

Epilepsy-microcephaly-skeletal dysplasia syndrome is characterized by the association of moderate to severe intellectual deficit, microcephaly, epilepsy, coarse face, hirsutism and skeletal abnormalities (scoliosis and retarded bone development). It has been described only once, in two sibs (one male and one female). This syndrome is likely to be an autosomal recessive condition and thus parents should be informed of a 25% risk of recurrence for other children.

Also known as: Battaglia-Neri syndrome, epilepsy - microcephaly - skeletal dysplasia, intellectual disability, microcephaly, epilepsy, and coarse face, mental retardation, microcephaly, epilepsy, and coarse face

0 clinical trials for this condition and its sub-types, 0 tagged with Epilepsy-microcephaly-skeletal dysplasia syndrome itself.